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Staff
Dr. Ellen Sidransky is a pediatrician and clinical geneticist in the Medical Genetics Branch at the National Human Genome Research Institute.
… the complexity encountered in "simple" Mendelian disorders, the association between Gaucher disease and … protocols evaluating patients with lysososmal storage disorders and prospectively studying patients and relatives … contributing to clinical heterogeneity in single gene disorders, and to develop new therapies for patients. The …
Event
The Excellence in Clinical Research Seminar Series is designed to facilitate clinical research in the rare disease space with a focus on aspects of regulatory medicine and clinical trials in Mendelian disorders.
… on regulatory medicine and clinical trials in Mendelian disorders. The series will follow one of two formats: (1) a … of regulatory medicine and clinical trials in Mendelian disorders. The series will largely follow either one of two … of regulatory medicine and clinical trials in Mendelian disorders. …
Genetic Disorders
Noonan syndrome involves unusual facial characteristics, short stature, heart defects, bleeding problems, developmental delays and malformations of the ribs.
… Genetic Disorders …
Genetic Disorders
Alpha-1 antitrypsin deficiency is an inherited condition that causes low levels of, or no, alpha-1 antitrypsin in the blood.
… asthma, chronic bronchitis and bronchiectasis - a chronic inflammatory or degenerative condition of one or more bronchi … Genetic Disorders …
Staff
Dr. Marjan Huizing is a staff scientist in the Medical Genetics Branch at the National Human Genome Research Institute.
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… Dr. Huizing investigates rare human genetic disorders and associated intracellular processes in order to … molecular function that underlie various genetic metabolic disorders, with the hope of developing treatments for these illnesses. Her research focuses on disorders of sialic acid metabolism and of lysosome-related …
Genetic Disorders
Familial Mediterranean Fever is an inherited disease, characterized by recurrent attacks of fever, inflammation, painful, swollen joints, and ankle rash.
… under control, possibly by inhibiting the immune inflammatory response. There are more than 30 mutations in … sedimentation rate (ESR), which is an indication of an inflammatory response. Elevated plasma fibrinogen, which … Genetic Disorders …
Staff
Dr. Adebowale Adeyemo is an associate investigator and deputy director of NHGRI's Center for Research on Genomics and Global Health.
… genomics of complex disease, focusing on cardiometabolic disorders and complex disorders of childhood. He has published widely in genetics … broad areas: the genetic epidemiology of cardiometabolic disorders and the genetics of complex disease in childhood. Cardiometabolic disorders, in particular hypertension, obesity and diabetes, …
Talking Glossary
Cell-free DNA testing is a laboratory method that involves analyzing free (i.e., non-cellular) DNA contained within a biological sample, most often to look for genomic variants associated with a hereditary or genetic disorder.
Genetic Disorders
The porphyrias are a group of different diseases, each caused by a specific abnormality in the heme production process.
… difficult because the range of symptoms is common to many disorders and interpretation of the tests may be complex. A … include chest and abdominal pain, emotional and mental disorders, seizures and muscle weakness. These symptoms often … vomiting; constipation; and personality changes or mental disorders. These symptoms appear intermittently. The acute …
Genetic Disorders
Charcot-Marie-Tooth disease is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles and loss of sensation.
… Opens Door to Further Research In Inherited Neurological Disorders [News Release]) is implicated in CMT type 2D, a … forms of these diseases, as well as other neurological disorders. Because carpal tunnel syndrome affects the hands … - Genetics Home Reference National Organization for Rare Disorders (NORD) Online Mendelian Inheritance in Man  …